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	1.	Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15. [electronic resource] by Cheng, Hanyin Gottlieb, Leah Marchi, Elaine Kleyner, Robert Bhardwaj, Puja Rope, Alan F Rosenheck, Sarah Moutton, Sébastien Philippe, Christophe Eyaid, Wafaa Alkuraya, Fowzan S Toribio, Janet Mena, Rafael Prada, Carlos E Stessman, Holly Bernier, Raphael Wermuth, Marieke Kauffmann, Birgit Blaumeiser, Bettina Kooy, R Frank Baralle, Diana Mancini, Grazia M S Conway, Simon J Xia, Fan Chen, Zhao Meng, Linyan Mihajlovic, Ljubisa Marmorstein, Ronen Lyon, Gholson J Publication details: Human molecular genetics 03 2020 In: Human molecular genetics vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15. [electronic resource] by Cheng, Hanyin Gottlieb, Leah Marchi, Elaine Kleyner, Robert Bhardwaj, Puja Rope, Alan F Rosenheck, Sarah Moutton, Sébastien Philippe, Christophe Eyaid, Wafaa Alkuraya, Fowzan S Toribio, Janet Mena, Rafael Prada, Carlos E Stessman, Holly Bernier, Raphael Wermuth, Marieke Kauffmann, Birgit Blaumeiser, Bettina Kooy, R Frank Baralle, Diana Mancini, Grazia M S Conway, Simon J Xia, Fan Chen, Zhao Meng, Linyan Mihajlovic, Ljubisa Marmorstein, Ronen Lyon, Gholson J Producer: 20200309 In: Human molecular genetics vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. [electronic resource] by Muona, Mikko Berkovic, Samuel F Dibbens, Leanne M Oliver, Karen L Maljevic, Snezana Bayly, Marta A Joensuu, Tarja Canafoglia, Laura Franceschetti, Silvana Michelucci, Roberto Markkinen, Salla Heron, Sarah E Hildebrand, Michael S Andermann, Eva Andermann, Frederick Gambardella, Antonio Tinuper, Paolo Licchetta, Laura Scheffer, Ingrid E Criscuolo, Chiara Filla, Alessandro Ferlazzo, Edoardo Ahmad, Jamil Ahmad, Adeel Baykan, Betul Said, Edith Topcu, Meral Riguzzi, Patrizia King, Mary D Ozkara, Cigdem Andrade, Danielle M Engelsen, Bernt A Crespel, Arielle Lindenau, Matthias Lohmann, Ebba Saletti, Veronica Massano, João Privitera, Michael Espay, Alberto J Kauffmann, Birgit Duchowny, Michael Møller, Rikke S Straussberg, Rachel Afawi, Zaid Ben-Zeev, Bruria Samocha, Kaitlin E Daly, Mark J Petrou, Steven Lerche, Holger Palotie, Aarno Lehesjoki, Anna-Elina Producer: 20150311 In: Nature genetics vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)